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Page 1
ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infection.
Thomas AX, Link N, Robak LA, Demmler-Harrison G, Pao EC, Squire AE, Michels S, Cohen JS, Comi A, Prontera P, Verrotti di Pianella A, Di Cara G, Garavelli L, Caraffi SG, Fusco C, Zuntini R, Parks KC, Sherr EH, Hashem MO, Maddirevula S, Alkuraya FS, Contractar IAF, Neil JE, Walsh CA, Bellen HJ, Chao HT, Clark RD, Mirzaa GM. Thomas AX, et al. Among authors: clark rd. Ann Clin Transl Neurol. 2022 Aug;9(8):1276-1288. doi: 10.1002/acn3.51629. Epub 2022 Jul 24. Ann Clin Transl Neurol. 2022. PMID: 35871307 Free PMC article.
A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.
Yamamoto S, Jaiswal M, Charng WL, Gambin T, Karaca E, Mirzaa G, Wiszniewski W, Sandoval H, Haelterman NA, Xiong B, Zhang K, Bayat V, David G, Li T, Chen K, Gala U, Harel T, Pehlivan D, Penney S, Vissers LELM, de Ligt J, Jhangiani SN, Xie Y, Tsang SH, Parman Y, Sivaci M, Battaloglu E, Muzny D, Wan YW, Liu Z, Lin-Moore AT, Clark RD, Curry CJ, Link N, Schulze KL, Boerwinkle E, Dobyns WB, Allikmets R, Gibbs RA, Chen R, Lupski JR, Wangler MF, Bellen HJ. Yamamoto S, et al. Among authors: clark rd. Cell. 2014 Sep 25;159(1):200-214. doi: 10.1016/j.cell.2014.09.002. Cell. 2014. PMID: 25259927 Free PMC article.
Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly.
Link N, Chung H, Jolly A, Withers M, Tepe B, Arenkiel BR, Shah PS, Krogan NJ, Aydin H, Geckinli BB, Tos T, Isikay S, Tuysuz B, Mochida GH, Thomas AX, Clark RD, Mirzaa GM, Lupski JR, Bellen HJ. Link N, et al. Among authors: clark rd. Dev Cell. 2019 Dec 16;51(6):713-729.e6. doi: 10.1016/j.devcel.2019.10.009. Epub 2019 Nov 14. Dev Cell. 2019. PMID: 31735666 Free PMC article.
CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum.
Palmer EE, Whitton C, Hashem MO, Clark RD, Ramanathan S, Starr LJ, Velasco D, De Dios JK, Singh E, Cormier-Daire V, Chopra M, Rodan LH, Nellaker C, Lakhani S, Mallack EJ, Panzer K, Sidhu A, Wentzensen IM, Lacombe D, Michaud V, Alkuraya FS. Palmer EE, et al. Among authors: clark rd. Clin Genet. 2021 Oct;100(4):468-477. doi: 10.1111/cge.14022. Epub 2021 Jul 13. Clin Genet. 2021. PMID: 34212383
Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.
Yabumoto M, Kianmahd J, Singh M, Palafox MF, Wei A, Elliott K, Goodloe DH, Dean SJ, Gooch C, Murray BK, Swartz E, Schrier Vergano SA, Towne MC, Nugent K, Roeder ER, Kresge C, Pletcher BA, Grand K, Graham JM Jr, Gates R, Gomez-Ospina N, Ramanathan S, Clark RD, Glaser K, Benke PJ, Cohen JS, Fatemi A, Mu W, Baranano KW, Madden JA, Gubbels CS, Yu TW, Agrawal PB, Chambers MK, Phornphutkul C, Pugh JA, Tauber KA, Azova S, Smith JR, O'Donnell-Luria A, Medsker H, Srivastava S, Krakow D, Schweitzer DN, Arboleda VA. Yabumoto M, et al. Among authors: clark rd. Mol Genet Genomic Med. 2021 Oct;9(10):e1809. doi: 10.1002/mgg3.1809. Epub 2021 Sep 14. Mol Genet Genomic Med. 2021. PMID: 34519438 Free PMC article.
A novel syndrome associated with prenatal fentanyl exposure.
Wadman E, Fernandes E, Muss C, Powell-Hamilton N, Wojcik MH, Madden JA, Carreon CK, Clark RD, Stenftenagel A, Chikalard K, Kimonis V, Brucker W, Alves C, Gripp KW. Wadman E, et al. Among authors: clark rd. Genet Med Open. 2023 Sep 28;1(1):100834. doi: 10.1016/j.gimo.2023.100834. eCollection 2023. Genet Med Open. 2023. PMID: 39669238 Free PMC article.
261 results